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A tumor profile in Patau syndrome (trisomy 13).
Satgé D, Nishi M, Sirvent N, Vekemans M, Chenard MP, Barnes A. Satgé D, et al. Among authors: sirvent n. Am J Med Genet A. 2017 Aug;173(8):2088-2096. doi: 10.1002/ajmg.a.38294. Epub 2017 May 25. Am J Med Genet A. 2017. PMID: 28544599 Review.
Kawasaki disease with exceptional cutaneous manifestations.
Passeron T, Olivier V, Sirvent N, Khalfi A, Boutté P, Lacour JP. Passeron T, et al. Among authors: sirvent n. Eur J Pediatr. 2002 Apr;161(4):228-30. doi: 10.1007/s00431-001-0905-5. Eur J Pediatr. 2002. PMID: 12014395 No abstract available.
Juvenile myelomonocytic leukaemia and Noonan syndrome.
Strullu M, Caye A, Lachenaud J, Cassinat B, Gazal S, Fenneteau O, Pouvreau N, Pereira S, Baumann C, Contet A, Sirvent N, Méchinaud F, Guellec I, Adjaoud D, Paillard C, Alberti C, Zenker M, Chomienne C, Bertrand Y, Baruchel A, Verloes A, Cavé H. Strullu M, et al. Among authors: sirvent n. J Med Genet. 2014 Oct;51(10):689-97. doi: 10.1136/jmedgenet-2014-102611. Epub 2014 Aug 5. J Med Genet. 2014. PMID: 25097206
A tumor profile in Edwards syndrome (trisomy 18).
Satgé D, Nishi M, Sirvent N, Vekemans M. Satgé D, et al. Among authors: sirvent n. Am J Med Genet C Semin Med Genet. 2016 Sep;172(3):296-306. doi: 10.1002/ajmg.c.31511. Epub 2016 Jul 30. Am J Med Genet C Semin Med Genet. 2016. PMID: 27474103 Review.
CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome.
Pinson L, Mannini L, Willems M, Cucco F, Sirvent N, Frebourg T, Quarantotti V, Collet C, Schneider A, Sarda P, Geneviève D, Puechberty J, Lefort G, Musio A. Pinson L, et al. Among authors: sirvent n. Am J Med Genet A. 2014 Jan;164A(1):177-81. doi: 10.1002/ajmg.a.36166. Epub 2013 Nov 20. Am J Med Genet A. 2014. PMID: 24259107
Testicular Sertoli cell tumour and potentially testicular Leydig cell tumour are features of DICER1 syndrome.
Golmard L, Vasta LM, Duflos V, Corsini C, Dubois d'Enghien C, McMaster ML, Harney LA, Carr AG, Ling A, Dijoud F, Gauthier A, Miettinen M, Cost NG, Gauthier-Villars M, Orbach D, Irtan S, Haouy S, Schultz KA, Stoppa-Lyonnet D, Coupier I, Stewart DR, Sirvent N. Golmard L, et al. Among authors: sirvent n. J Med Genet. 2022 Apr;59(4):346-350. doi: 10.1136/jmedgenet-2020-107434. Epub 2021 Mar 29. J Med Genet. 2022. PMID: 33782093 Free PMC article.
Prevalence and characteristics of metabolic syndrome in adults from the French childhood leukemia survivors' cohort: a comparison with controls from the French population.
Oudin C, Berbis J, Bertrand Y, Vercasson C, Thomas F, Chastagner P, Ducassou S, Kanold J, Tabone MD, Paillard C, Poirée M, Plantaz D, Dalle JH, Gandemer V, Thouvenin S, Sirvent N, Saultier P, Béliard S, Leverger G, Baruchel A, Auquier P, Pannier B, Michel G. Oudin C, et al. Among authors: sirvent n. Haematologica. 2018 Apr;103(4):645-654. doi: 10.3324/haematol.2017.176123. Epub 2018 Jan 19. Haematologica. 2018. PMID: 29351982 Free PMC article. Clinical Trial.
Juvenile myelomonocytic leukemia displays mutations in components of the RAS pathway and the PRC2 network.
Caye A, Strullu M, Guidez F, Cassinat B, Gazal S, Fenneteau O, Lainey E, Nouri K, Nakhaei-Rad S, Dvorsky R, Lachenaud J, Pereira S, Vivent J, Verger E, Vidaud D, Galambrun C, Picard C, Petit A, Contet A, Poirée M, Sirvent N, Méchinaud F, Adjaoud D, Paillard C, Nelken B, Reguerre Y, Bertrand Y, Häussinger D, Dalle JH, Ahmadian MR, Baruchel A, Chomienne C, Cavé H. Caye A, et al. Among authors: sirvent n. Nat Genet. 2015 Nov;47(11):1334-40. doi: 10.1038/ng.3420. Epub 2015 Oct 12. Nat Genet. 2015. PMID: 26457648
152 results